ClinVar Miner

List of variants in gene TBC1D24 reported as pathogenic for autosomal recessive nonsyndromic hearing loss 86

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.194G>T (p.Arg65Leu) rs878853232
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr) rs587777147
NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter) rs1567411469
NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro) rs199700840
NM_001199107.2(TBC1D24):c.965+1G>A rs1390045914

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